NOT-98-135: RESEARCH NETWORK FOR LARGE SCALE SEQUENCING OF THE HUMAN GENOME

Department of Health
and Human Services (HHS)

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RESEARCH NETWORK FOR LARGE SCALE SEQUENCING OF THE HUMAN GENOME - CHANGE OF SCOPE Release Date: September 29, 1998 RFA: HG-98-002 P.T. National Human Genome Research Institute Application Receipt Date: December 10, 1998 PURPOSE The purpose of this notice is to inform investigators who have expressed an interest in applying for the above-referenced RFA that the National Human Genome Research Institute (NHGRI) is revising the scope of the RFA in light of recent advice from the National Advisory Council for Human Genome Research (NACHGR). The NACHGR has approved a new NIH-DOE plan for the Human Genome Project (HGP) in the U.S. for the years 1999-2003. (The full NIH-DOE five-year plan will be published in the October 23, 1998 issue of Science.) The new plan calls for the completion of a finished, high quality human DNA sequence by 2003, in addition, the plan calls for generation of a "working draft" of the sequence consisting of at least 90% coverage and at least 99% accuracy by 2001. The sequence data on which the working draft will be based will be held to quality standards aimed at ensuring that the data can later be directly used in assembling finished genomic sequence. Therefore, assembly of the working draft should not create loss of efficiency or increases in overall cost. Finally, the plan also calls for finishing one-third of the human sequence by 2001, focusing on gene-rich regions of the genome. Investigators who plan to respond to this RFA must address the new NHGRI sequencing goals (available at URL: https://www.genome.gov/DER/Announcements/goals.html)in their applications. Applications for large-scale sequencing centers should focus on production of finished sequence, but may also propose to generate additional draft-quality sequence in their research plan. The primary objective of the specialized centers remains contributing, in any of a variety of ways, to the completion of the human DNA sequence by providing flexibility, capabilities or services that the sequence production centers cannot. The following are examples of activities that would be appropriate for specialized sequencing projects in light of the new goals for the genome project: producing finished and draft-quality sequence, albeit at a smaller scale than the production centers, collaborating with another sequencing center by finishing some portion of the draft-quality data being produced by the collaborating center or by producing draft sequence for finishing by the collaborator. As stated in the original RFA, investigators may also propose to organize specialized sequencing centers around the sequencing of difficult regions of the genome or the testing of a new technology or strategy. Award criteria for the large-scale sequencing centers and specialized sequencing centers have been revised as follows: Awards will be made on the basis of scientific and technical merit as determined by peer review, including the significance of the projected contribution toward meeting the NHGRI program goals of: contributing to the completion of the finished, high quality human DNA sequence by the year 2003, generating a draft- quality sequence covering at least 90% of the human genome and at least 99% accuracy by 2001, and completing finished, high quality sequence representing one-third of the human genome by 2001. Award decisions will also take into account program needs and balance, adherence to NHGRI policies on human subjects, data release and intellectual property, and the availability of funds. It is expected that, under the terms of the Cooperative Agreement as specified in the RFA, there will be effective collaboration and coordination amongst the successful applicants. Applicants should address in the application, the role they will play in the Cooperative Agreement. Funds Available: It is anticipated that as much as $120 million may be available for support of the Research Network in FY 1999. The funding level will be dependent upon the availability of funds. Quality Control Center: NHGRI has determined that it will not accept applications for a quality control center as part of this RFA, but will instead issue an RFP for a contract to perform sequence quality assessment in the near future. Review Schedule: In response to the accelerated timetable for completion of the human genome sequence described in the new NIH-DOE 5-year plan, the NACHGR advised NHGRI to accelerate the review and funding of applications submitted by groups that have already demonstrated the capability to contribute large amounts of finished, high quality human DNA sequence. Therefore, applications from groups that have sequenced and deposited in a public database by December 10, 1998 at least 15 Mb of completed genomic sequence (in contigs greater than 30,000 bp) will be reviewed on an accelerated timetable and considered by the NACHGR at its February 1999 meeting. Approximately one-half of the funds available for the RFA will be available to fund these projects after the February Council meeting. All other applications for large-scale sequencing centers and specialized sequencing centers will be reviewed on the timetable outlined in the original RFA, but should be submitted for the December 10, 1998 receipt date, not October 9, 1998. In July 1999, the remaining funds will be used to support additional efforts that can sequence human genomic DNA rapidly and efficiently, or to increase support for the most efficient production efforts. Quality Control Exercise for RFA: As announced in the RFA, as part of the review of the applications, NHGRI will conduct a quality control exercise for all applicants who have deposited completed sequence in GenBank. This exercise will commence November 1, 1998. NHGRI staff will contact those who have already submitted letters of intent to discuss the details of the quality control exercise. Web-based Progress Report: The set of questions that must be addressed by applicants as part of their progress report of their applications has been revised and is posted at URL: https://www.genome.gov/DER/Announcements/progress_reports.html. A new addition to this set is a format for presenting sequencing costs which must be used to report sequencing costs for the previous year and for the years of support requested in the application. The budget should also be submitted in the usual format requested in the Form PHS 398. INQUIRIES Direct inquiries regarding programmatic issues to: Dr. Jane L. Peterson or Dr. Adam Felsenfeld Division of Extramural Research National Human Genome Research Institute 38 Library Drive, Room 614, MSC 6050 Bethesda, MD 20892-6050 Telephone: (301) 496-7531 FAX: (301) 480-2770 Email: Jane_Peterson@nih.gov Adam_Felsenfeld@nih.gov Direct inquiries regarding fiscal matters to: Ms. Jean Cahill Grants Management Office National Human Genome Research Institute 38 Library Drive, Room 613, MSC 6050 Bethesda, MD 20892-6050 Telephone: (301) 402-0733 FAX: (301) 402-1951 Email: Jean_Cahill@nih.gov

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